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Aliases for BTBD11 Gene

Aliases for BTBD11 Gene

  • BTB Domain Containing 11 2 3 5
  • BTB/POZ Domain-Containing Protein 11 3 4
  • BTB (POZ) Domain Containing 11 2 3
  • Ankyrin Repeat And BTB/POZ Domain-Containing Protein BTBD11 3
  • ANK-Repeat BTB Domain Containing Protein 3
  • ABTB2B 3

External Ids for BTBD11 Gene

Previous GeneCards Identifiers for BTBD11 Gene

  • GC12P106531
  • GC12P106216
  • GC12P106513
  • GC12P107712
  • GC12P104772

Summaries for BTBD11 Gene

GeneCards Summary for BTBD11 Gene

BTBD11 (BTB Domain Containing 11) is a Protein Coding gene. GO annotations related to this gene include protein heterodimerization activity. An important paralog of this gene is ABTB2.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTBD11 Gene

Genomics for BTBD11 Gene

Regulatory Elements for BTBD11 Gene

Enhancers for BTBD11 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F107491 1 Ensembl ENCODE 27.7 +175.4 175382 1.9 CTCF SAP130 FEZF1 ZNF384 THRB RAD21 SMC3 NR2F6 NFE2L2 ZNF654 BTBD11 ENSG00000200897 RNA5SP371 ENSG00000257579
GH12F107467 0.5 ENCODE 28.8 +151.0 151041 1.3 BHLHE40 ZIC2 RAD21 NFE2L2 BTBD11 GC12M107479 GC12M107425
GH12F107336 0.7 Ensembl ENCODE 12.4 +20.7 20654 1.8 PKNOX1 POLR2A TBX21 BTBD11 ENSG00000200897 GC12M107333 GC12M107354
GH12F108301 1.7 FANTOM5 Ensembl ENCODE 4.4 +988.6 988621 8.0 PKNOX1 ARNT CREB3L1 SIN3A FEZF1 ZNF2 ZNF766 FOS ZNF263 REST SART3 CMKLR1 LINC01498 FICD ENSG00000257398 BTBD11 UNG CORO1C SELPLG GC12M108289
GH12F107671 0.8 ENCODE 9.2 +354.1 354051 0.2 SOX13 CTCF SAP130 MAX CEBPG ZIC2 RAD21 TEAD3 ZNF143 NR2F6 BTBD11 PWP1 ENSG00000222160
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BTBD11 on UCSC Golden Path with GeneCards custom track

Genomic Location for BTBD11 Gene

Chromosome:
12
Start:
107,317,168 bp from pter
End:
107,659,642 bp from pter
Size:
342,475 bases
Orientation:
Plus strand

Genomic View for BTBD11 Gene

Genes around BTBD11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTBD11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTBD11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTBD11 Gene

Proteins for BTBD11 Gene

  • Protein details for BTBD11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A6QL63-BTBDB_HUMAN
    Recommended name:
    Ankyrin repeat and BTB/POZ domain-containing protein BTBD11
    Protein Accession:
    A6QL63
    Secondary Accessions:
    • A4FU41
    • B3KXG3
    • C9J019
    • C9JK80
    • E9PHS4
    • Q3ZTQ4
    • Q52M89
    • Q6ZV99
    • Q8N245

    Protein attributes for BTBD11 Gene

    Size:
    1104 amino acids
    Molecular mass:
    120884 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI01562.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI01564.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAI46825.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAR21078.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC85963.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=EAW97799.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for BTBD11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BTBD11 Gene

Post-translational modifications for BTBD11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BTBD11 Gene

Domains & Families for BTBD11 Gene

Protein Domains for BTBD11 Gene

Suggested Antigen Peptide Sequences for BTBD11 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

A6QL63

UniProtKB/Swiss-Prot:

BTBDB_HUMAN :
  • Contains 1 BTB (POZ) domain.
  • Contains 5 ANK repeats.
Domain:
  • Contains 1 BTB (POZ) domain.
Similarity:
  • Contains 5 ANK repeats.
genes like me logo Genes that share domains with BTBD11: view

Function for BTBD11 Gene

Molecular function for BTBD11 Gene

UniProtKB/Swiss-Prot Induction:
By all-trans retinoic acid (ATRA).

Gene Ontology (GO) - Molecular Function for BTBD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031625 ubiquitin protein ligase binding IBA --
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with BTBD11: view
genes like me logo Genes that share phenotypes with BTBD11: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BTBD11 Gene

Localization for BTBD11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BTBD11 Gene

Membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BTBD11 gene
Compartment Confidence
nucleus 3
cytosol 3
mitochondrion 2

Gene Ontology (GO) - Cellular Components for BTBD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0019005 SCF ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with BTBD11: view

Pathways & Interactions for BTBD11 Gene

SuperPathways for BTBD11 Gene

No Data Available

Interacting Proteins for BTBD11 Gene

Gene Ontology (GO) - Biological Process for BTBD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030162 regulation of proteolysis IBA --
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA --
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process IBA --
GO:0060395 SMAD protein signal transduction IBA --
genes like me logo Genes that share ontologies with BTBD11: view

No data available for Pathways by source and SIGNOR curated interactions for BTBD11 Gene

Transcripts for BTBD11 Gene

Unigene Clusters for BTBD11 Gene

BTB (POZ) domain containing 11:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BTBD11 Gene

No ASD Table

Relevant External Links for BTBD11 Gene

GeneLoc Exon Structure for
BTBD11
ECgene alternative splicing isoforms for
BTBD11

Expression for BTBD11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BTBD11 Gene

mRNA differential expression in normal tissues according to GTEx for BTBD11 Gene

This gene is overexpressed in Esophagus - Mucosa (x8.8).

Protein differential expression in normal tissues from HIPED for BTBD11 Gene

This gene is overexpressed in Bone marrow stromal cell (55.6) and Cerebrospinal fluid (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BTBD11 Gene



NURSA nuclear receptor signaling pathways regulating expression of BTBD11 Gene:

BTBD11

SOURCE GeneReport for Unigene cluster for BTBD11 Gene:

Hs.271272
genes like me logo Genes that share expression patterns with BTBD11: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for BTBD11 Gene

Orthologs for BTBD11 Gene

This gene was present in the common ancestor of animals.

Orthologs for BTBD11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BTBD11 34 35
  • 98.91 (n)
dog
(Canis familiaris)
Mammalia BTBD11 34 35
  • 94.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 94 (a)
OneToMany
-- 35
  • 93 (a)
OneToMany
-- 35
  • 78 (a)
OneToMany
cow
(Bos Taurus)
Mammalia BTBD11 34 35
  • 93.12 (n)
rat
(Rattus norvegicus)
Mammalia Btbd11 34
  • 91.57 (n)
mouse
(Mus musculus)
Mammalia Btbd11 34 16 35
  • 89.86 (n)
oppossum
(Monodelphis domestica)
Mammalia BTBD11 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves BTBD11 34 35
  • 83.36 (n)
lizard
(Anolis carolinensis)
Reptilia BTBD11 35
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia btbd11 34
  • 76.86 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15727 34
zebrafish
(Danio rerio)
Actinopterygii btbd11a 35
  • 73 (a)
OneToMany
btbd11b 34 35
  • 71.31 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG43980 35
  • 23 (a)
OneToMany
Species where no ortholog for BTBD11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BTBD11 Gene

ENSEMBL:
Gene Tree for BTBD11 (if available)
TreeFam:
Gene Tree for BTBD11 (if available)

Paralogs for BTBD11 Gene

Paralogs for BTBD11 Gene

(1) SIMAP similar genes for BTBD11 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with BTBD11: view

Variants for BTBD11 Gene

Sequence variations from dbSNP and Humsavar for BTBD11 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs200629571 Uncertain significance 107,319,088(+) GCGGG(A/G/T)GCTGC upstream-variant-2KB, reference, missense
rs1002256 -- 107,403,094(+) GATTG(A/T)GAGAA intron-variant
rs1002257 -- 107,403,096(+) TTGAG(A/T)GAATA intron-variant
rs1002923 -- 107,414,266(+) GGGCT(C/T)CGAAT intron-variant, upstream-variant-2KB
rs10047522 -- 107,408,076(+) TAAAC(C/G)GTCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BTBD11 Gene

Variant ID Type Subtype PubMed ID
nsv876 CNV insertion 18451855
nsv875 CNV deletion 18451855
nsv874 CNV insertion 18451855
nsv873 CNV deletion 18451855
nsv872 CNV insertion 18451855
nsv560092 CNV loss 21841781
nsv560091 CNV gain 21841781
nsv528273 CNV gain 19592680
nsv524835 CNV loss 19592680
nsv524699 CNV loss 19592680
nsv455705 CNV loss 19166990
nsv1038935 CNV gain 25217958
esv3630692 CNV gain 21293372
esv3630691 CNV loss 21293372
esv3630690 CNV loss 21293372
esv32768 CNV gain 17666407
esv2746339 CNV deletion 23290073
esv2746338 CNV deletion 23290073
esv2746337 CNV deletion 23290073
esv2025373 CNV deletion 18987734
esv1332246 CNV deletion 17803354
esv1000854 CNV deletion 20482838
dgv910e59 CNV duplication 20981092

Variation tolerance for BTBD11 Gene

Residual Variation Intolerance Score: 6.29% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.46; 98.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BTBD11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BTBD11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTBD11 Gene

Disorders for BTBD11 Gene

Relevant External Links for BTBD11

Genetic Association Database (GAD)
BTBD11
Human Genome Epidemiology (HuGE) Navigator
BTBD11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BTBD11

No disorders were found for BTBD11 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BTBD11 Gene

Publications for BTBD11 Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3 64
  5. Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. (PMID: 24709693) Cobb J. … Thomson W. (Pharmacogenomics J. 2014) 3 64

Products for BTBD11 Gene

Sources for BTBD11 Gene

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